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This article is from Molecular Vision, volume 20.AbstractPurpose: Congenital cataracts occur in 3–4 per 10,000 live births and account for 5% to 20% of pediatric blindness worldwide. With more than 37 genes known to be associated with isolated congenital cataract, whole exome sequencing (WES) was recently introduced as an efficient method for screening all known factors. Methods: Whole exome analysis in two members of a four-generation pedigree affected with dominant congenital cataract and... Source: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4057250

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This article is from Molecular Vision, volume 18.AbstractPurpose: To describe a novel mutation in the fibrillin-1 (FBN1) gene in a large Pakistani family with autosomal dominant Marfan syndrome (MFS). Methods: Blood samples were collected of 11 family members affected with Marfan syndrome, and DNA was isolated by phenol-extraction. The coding exons of FBN1 were analyzed by polymerase chain reaction (PCR) and direct sequencing. One hundred-thirty controls were screened for a mutation in the FBN1... Source: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3413445

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This article is from Molecular Vision, volume 19.AbstractPurpose: Progressive rod-cone degeneration (PRCD) is a canine form of autosomal recessive photoreceptor degeneration and serves as an animal model for human retinitis pigmentosa (RP). To date, only two RP-causing mutations of the PRCD gene have been reported in humans. We found a novel mutation in PRCD (c.52C>T, p.R18X) in three siblings affected by RP and present detailed morphologic and functional parameters. Methods: A complete... Source: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3692407

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This article is from Molecular Vision, volume 18.AbstractPurpose: The purpose of this study was to identify the underlying molecular genetic defect in an Indonesian family with three affected individuals who had received a diagnosis of retinitis pigmentosa (RP). Methods: Clinical evaluation of the family members included measuring visual acuity and fundoscopy, and assessing visual field and color vision. Genomic DNA of the three affected individuals was analyzed with Illumina 700k single... Source: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3472925

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This article is from Molecular Vision, volume 18.AbstractPurpose: To identify mutations in FZD4 and LRP5 in 49 Chinese families with familial exudative vitreoretinopathy (FEVR) and to reveal the mutation spectrum and frequency of these genes in the Chinese population. Methods: Clinical data and genomic DNA were collected for patients from 49 families with FEVR. The coding exons and adjacent intronic regions of FZD4 and LRP5 were amplified with polymerase chain reaction, and the resulting... Source: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3472927

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This article is from Molecular Vision, volume 20.AbstractPurpose: Primary angle-closure glaucoma (PACG) in dogs is usually caused by the gradual collapse of the iridocorneal angle and cleft, eventually leading to aqueous humor (AH) outflow obstruction. The condition occurs in several breeds of dogs and the prognosis for affected animals is typically poor. We have identified several basset hound (BH) pedigrees, as well as unrelated cases with characteristic PACG that in many aspects... Source: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4000717

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This article is from Molecular Vision, volume 20.AbstractPurpose: To screen for mutations in the coding region of the myocilin (MYOC) gene in a large Malay family with juvenile-onset open angle glaucoma (JOAG). Methods: A total of 122 family members were thoroughly examined and screened for JOAG. Venipuncture was conducted. Genomic DNA was extracted from peripheral blood leukocytes. The presence of a mutation and a polymorphism was ascertained with PCR amplification followed by the direct... Source: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4037532

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This article is from Molecular Vision, volume 20.AbstractPurpose: To identify proteins interacting with alpha A-crystallin (CRYAA) and to investigate the potential role that these protein interactions play in the function of CRYAA using a human proteome (HuProt) microarray. Methods: The active full-length CRYAA protein corresponding to amino acids 1–173 of CRYAA was recombined. A HuProt microarray composed of 17,225 human full-length proteins with N-terminal glutathione S-transferase (GST)... Source: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3893783

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This article is from Molecular Vision, volume 18.AbstractPurpose: To identify the genetic defects underlying retinitis pigmentosa (RP) in Pakistani families. Methods: Genome-wide high-density single-nucleotide-polymorphism microarray analysis was performed using the DNA of nine affected individuals from two large families with multiple consanguineous marriages. Data were analyzed to identify homozygous regions that are shared by affected sibs in each family. Sanger sequencing was performed for... Source: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3365133

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This article is from Molecular Vision, volume 18.AbstractPurpose: To describe the clinical and genetic findings in two Chinese families with retinitis pigmentosa (RP). Methods: Two unrelated families were examined clinically. After informed consent was obtained, genomic DNA was extracted from the venous blood of all participants. Genotyping and haplotyping analysis was performed on the known genetic loci for autosomal dominant retinitis pigmentosa (adRP) with a panel of polymorphic markers in... Source: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3534141

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This article is from Molecular Vision, volume 20.AbstractPurpose: To investigate the clinical features and disease-causing mutations in two Chinese families with familial exudative vitreoretinopathy (FEVR). Methods: Clinical data and genomic DNA were collected for patients with FEVR. The coding exons and adjacent intronic regions of FZD4, LRP5, TSPAN12, and NDP were amplified with PCR, and the resulting amplicons were analyzed with Sanger sequencing. Wild-type and mutant LRP5 proteins were... Source: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3976684

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This article is from Molecular Vision, volume 18.AbstractPurpose: During mammalian eye development, the restriction of Wnt/β-catenin signaling at the junction of the neural retina and the retinal pigment epithelium in the peripheral eyecup is required for the development of the ciliary margin, a non-neural region of the eyecup that is the precursor of the ciliary body and iris of the adult eye. Methods: To identify genes that are modulated by β-catenin activity in the embryonic retina, we... Source: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3324352

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This article is from Molecular Vision, volume 19.AbstractPurpose: Hypoxia-induced retinal ganglion cell (RGC) apoptosis has been implicated in many optic neuropathies. Insulin-like growth factor-1 (IGF-1) is important in maintaining neuronal survival, proliferation, and differentiation. The purpose of this study is to explore whether IGF-1 can protect RGCs from hypoxia-induced apoptosis and to determine the precise mechanisms that regulate this process. Methods: Purified RGC cultures were... Source: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3774573

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This article is from Molecular Vision, volume 17.AbstractPurpose: To investigate the effect of desiccation on secretion of inflammatory cytokines in corneal epithelial cells and in the rat desiccation model. Methods: A human corneal epithelial cell line (CEPI) was grown in keratinocyte growth medium 2 (KGM2) to approximately 80% confluence. The medium was aspirated and dishes were left for 0 to 30 min with the cover left open to dry the cells (short-term desiccation). After desiccation, KGM2... Source: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3185024

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This article is from Molecular Vision, volume 17.AbstractPurpose: To evaluate the role of interleukin-6 (IL-6) in the inflammatory and proliferative stages of Eales’ disease (ED) and to determine the influence of IL-6–174G/C polymorphism in the IL-6 and IL-6-regulated protein expression, as well as the development of ED. Methods: One hundred and twenty-one patients diagnosed with ED, 223 matched healthy controls, and 16 control patients with macular holes were recruited from the eastern... Source: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3198485

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Woodruff Special Collections has one copy which is [v. 5, no. 5] of [Tennesseeana], a collection of pamphlets and miscellany gathered by Samuel Cole Williams, and is bound with others in this volume Topic: Vanderbilt University

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The online edition of this book in the public domain, i.e., not protected by copyright, has been produced by the Emory University Digital Library Publications Program Topics: Methodist Episcopal Church, South, Vanderbilt University, Church and college, Universities and...